National Survey of DYT/PARK-GCH1 (Segawa Disease) in Japan
Objective: To clarify clinical features of Segawa Disease (SD) in Japan. Background: Prof Segawa discovered SD 50 years ago, and GCH-1 gene mutations were linked…Long-Term Therapeutic Effect of Botulinum Neurotoxin Type A (BoNT-A) in Cervical Dystonia: A Case Series.
Objective: To evaluate the long-term therapeutic effect of Botulinum neurotoxin type A (BoNT-A) in cervical dystonia. Background: Cervical dystonia is the most common adult-onset focal…The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia
Objective: To determine the objective characteristics of alcohol responsiveness in laryngeal dystonia (LD) using a standardized alcohol challenge test and genetic testing. Background: LD is…GPi-DBS responsive laryngeal dystonia in SGCE myoclonus-dystonia
Objective: To describe a case of DBS-responsive laryngeal dystonia in the setting of myoclonus-dystonia secondary to e-sarcoglycan (SGCE) mutation. Background: DBS is emerging as a…Understanding Family and Clinician Perspectives on Treatment Decision-Making for Acute Dystonia Exacerbations in Children
Objective: Primary: To identify factors influencing the decision to provide acute pharmacological treatment for dystonia exacerbations in hospitalized pediatric patients. Secondary: To assess the alignment…Development and Testing of a Smartphone Application to Capture Patient-Centered Outcome (PCO) Measures for Dystonia
Objective: Develop a smartphone application to collect patient-centered outcome (PCO) measures for dystonia. Background: PCO measures tailored for each major adult-onset focal dystonia subtype (Cervical…Pilot Study: Shear Wave Elastography as a Potential Biomarker in Task-Specific Dystonia
Objective: The purpose of this study was to explore shear wave elastography (SWE)’s ability to identify task-specific dystonic muscles by determining if muscle stiffness increased…Exploring Pallidothalamotractotomy as an Option for Management of Refractory Dystonia following Failure of Pallidotomy
Objective: To assess the efficacy and safety of PTT as a rescue procedure after pallidotomy in two patients with refractory dystonia. Background: In cases of…Central Neuromodulatory Effects of Sodium Oxybate in Laryngeal Dystonia: A Pharmacological fMRI Study
Objective: To examine the central effects of sodium oxybate in patients with alcohol-responsive (EtOH+) laryngeal dystonia (LD). Background: LD is a task-specific form of isolated…Cerebrotendinous Xanthomatosis successfully treated with Chenodeoxycholic Acid Supplementation
Objective: To describe the clinical, radiological, laboratory and genetic findings of a patient with Cerebrotendinous Xanthomatosis (CTX) who presented with dystonic tremor initially and subsequently…
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